Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Gad1. (This text reflects annotations as of Tuesday, May 21, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Gad1
  • is located in the following cellular components:
    • axon ^{[1, 4]}
    • axon terminus ^[5]
    • cell cortex ^[5]
    • cytoplasm ^{[2, 3]}
    • mitochondrion ^[6]
    • neuron projection terminus ^[4]
    • presynaptic active zone ^[4]
    • synapse ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Gad1
  • participates in the following biological processes:
    • apoptotic process ^[2]
    • brain morphogenesis ^[2]
    • cerebellar cortex morphogenesis ^[2]
    • in utero embryonic development ^[2]
    • limb morphogenesis ^[2]
    • multicellular organism growth ^[2]
    • neural precursor cell proliferation ^[2]
    • neuron migration ^[2]
    • olfactory bulb development ^[2]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Gad1:
  • participates in the following biological processes:
    • gamma-aminobutyric acid biosynthetic process
  • performs the following molecular functions:
    • glutamate binding
    • glutamate decarboxylase activity
    • protein heterodimerization activity
    • protein N-terminus binding
    • pyridoxal phosphate binding
  • is located in the following cellular components:
    • intracellular

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Summary text based on GO annotations supported by structural data

• Gad1 encodes a protein or proteins that contain the following InterPro domains: Pyridoxal phosphate-dependent decarboxylase, Pyridoxal phosphate-dependent transferase, Pyridoxal phosphate-dependent transferase, major region, subdomain 1, Pyridoxal phosphate-dependent transferase, major region, subdomain 2, Pyridoxal-phosphate binding site, indicating that the gene product:
  • participates in the following biological processes:
    • carboxylic acid metabolic process
  • performs the following molecular functions:
    • carboxy-lyase activity
    • catalytic activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Gad1 indicates that it:
  • participates in the following biological processes:
    • neurotransmitter biosynthetic process
  • performs the following molecular functions:
    • carboxy-lyase activity
    • lyase activity

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References

1. Ango F et al. (2004) Ankyrin-based subcellular gradient of neurofascin, an immunoglobulin family protein, directs GABAergic innervation at purkinje axon initial segment. Cell, 119:257-72. (PubMed:15479642)
2. Endoh-Yamagami S et al. (2010) A mutation in the pericentrin gene causes abnormal interneuron migration to the olfactory bulb in mice. Dev Biol, 340:41-53. (PubMed:20096683)
3. Erbel-Sieler C et al. (2004) Behavioral and regulatory abnormalities in mice deficient in the NPAS1 and NPAS3 transcription factors. Proc Natl Acad Sci U S A, 101:13648-53. (PubMed:15347806)
4. Fukami S et al. (2002) Abeta-degrading endopeptidase, neprilysin, in mouse brain: synaptic and axonal localization inversely correlating with Abeta pathology. Neurosci Res, 43:39-56. (PubMed:12074840)
5. Kinoshita A et al. (2000) Differential localization of septins in the mouse brain J Comp Neurol, 428:223-39. (PubMed:11064363)
6. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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